Hemophilia

What is Hemophilia?

 

Hemophilia occurs when a protein in the blood, which is needed for the process of forming a blood clot, is missing or reduced.  This certain type of protein is called a clotting factor.  When there is not enough of this clotting factor in a person’s body, they do not stop bleeding as quickly as they should.  A person with hemophilia is at risk to bleed longer, not faster.

 

Hemophilia A occurs when there is a lack of the clotting protein called factor VIII (eight).  Hemophilia B occurs when there is a lack of the clotting protein called factor IX (nine).

 

Genetics

 

Hemophilia is passed down through families.  The gene that causes hemophilia can come from the mother or the father.  If the mother passes the gene to her son, he will have hemophilia.  If the mother passes the gene to her daughter, she will be a carrier of hemophilia.  The father can only pass the gene to his daughter and then she will be a carrier.  Hemophilia almost always occurs in males only.  In order for a female to have the disorder she would have to have the gene passed to her from her mother and father. About 30% of people who are born with hemophilia do not have a family history.  This is called a spontaneous mutation.

 

What are the levels of Hemophilia?

 

There are three levels.

• Mild is when, in most cases, bleeding occurs only after a major injury, surgery or dental work.  A factor level of 5-50% indicates a mild level.
• Moderate is when bleeding occurs after the above and after smaller injuries.  A factor level of 1-5% indicates a moderate level.
• Severe is when bleeding can occur after the above but can also occur without warning.  A factor level of <1% indicates="indicates" a="a" severe="severe" level.</li="level.</li" />

 

A person’s level of hemophilia does not change over time.  At birth, genetic changes are present in the cells and can not be altered.  The specific gene changes determine how much factor the cells are able to make.  The level of hemophilia is the same among family members.  If your family has a mild level, then all members who have hemophilia will also have a mild level.  However family members can have different patterns of bleeding.

 

 

Bleeding and Clotting

 

The process for normal bleeding after a blood vessel is injured is as follows.

 

The blood vessel constricts → platelets form a plug → fibrin forms a net over platelet plug→ a blood clot is formed.

 

The blood has ten proteins in it that are needed in order for blood to clot.  These proteins are called clotting factors.  Clotting factors are activated when a vessel breaks.  One factor activates the next until a clot is formed.

 

When a person has hemophilia, they lack clotting factor VIII or IX.  The lack of clotting factor prevents a stable clot from being formed.

 

Types of bleeds and symptoms

• Joint or Muscle – symptoms may include swelling, tingling, warmth, pain, redness, and decreased use of the joint or muscle.
• Mouth and Nose – symptoms may include blood seen around the mouth and nose, or felt running down the back of the throat.
• Head – symptoms may include headache, neck ache, sleepiness, sensitivity to light, nausea, vomiting, or loss of consciousness.
• Neck and Throat – symptoms may include neck and tongue swelling, trouble swallowing or breathing.
• Abdominal – symptoms may include blood in vomit or vomit that looks like coffee grounds.  You may see black or tar colored stools.  Nausea or abdominal pains are also symptoms.

 

Notify your hemophilia treatment center right away if you suspect a head, neck, or abdominal bleed. 

 

If you notice extreme paleness of skin this may be a sign of blood loss.

 

Treatments

• Rest, ice, compression, elevation (RICE)
• Factor (recombinant/plasma) may be given to stop bleeding.  It is given through an IV (intravenous).  Sometimes more than one dose is given within 12-24 hours.  Factor may be given to help prevent bleeds. 
• Acetaminophen (Tylenol®) may be used for pain.  Never give aspirin products.  Do not use ibuprofen (Motrin®, Advil®) products either.  These products may cause problems with clotting.  Do not give pain medicine if there is concern about a head injury.
• DDAVP can only be used for a mild level factor VIII deficiency.  It can be given either by IV, injection, or inhaled through the nose.  The type that is inhaled through the nose is called “Stimate”.
• Amicar is used for bleeding to the mucosa (examples include mouth, nose, intestinal track).  It is most often given by mouth and used often before and after dental work.

 

Complications

 

The most common problem is with joints.  When a bleed occurs in a joint, blood builds up in the joint space.  This build up of blood in the joints causes swelling and pain.  It takes time for the body to reabsorb the blood.  The enzymes that are released to reabsorb the blood also can cause breakdown of healthy tissue in the joint.  Treating a joint bleed as soon as possible will decrease the amount of blood that builds up in the joint space.  It will therefore help prevent further joint problems.

 

Inhibitors may be a difficult complication.  They occur when the body creates an antibody that destroys the factor that is infused as part of treatment.  The immune system sees the factor given to stop bleeding as a foreign substance.  It will then destroy the factor in its confused effort to protect the body.  Most inhibitors develop in the first 9-50 treatments and in patients with severe hemophilia.  If inhibitors develop your doctors have other treatment options to use.

 

Physical activity

 

Everyone with a bleeding disorder should have a good level of physical activity.  It will help the body to have strong muscles and good joint movement.  The amount of activity that someone with a bleeding disorder takes part in will depend on their own skill level.  Promote sports such as swimming, dancing and walking.  Ball games such as softball, tennis, and golf are also good choices.  Discourage contact sports with a high risk of injury.  This includes sports such as football, hockey and boxing.  Taking part in physical activity also helps promote a positive self-esteem.

 

Proper training on a given activity is important for safety.  This includes learning the rules and using the correct gear such as helmets, pads, and guards.

 

 

If you have any questions or concerns about this handout please ask questions.

 

Your contacts at the hemophilia Treatment Center

 

Doctor_____________________________________________Phone:____________

 

Nurse______________________________________________Phone____________

 

UWHC Comprehensive Program for Bleeding Disorders: 866-737-6707.

 

The information provided should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Any duplication or distribution of the information contained herein is strictly prohibited.

Last Updated: 06/07/2007

Copyright © 12/05/2006 University of Wisconsin Hospitals and Clinics Authority. All rights reserved. Produced by the Department of Nursing. UWH #6535

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